Incidental Mutation 'IGL02396:Golga2'
ID 294362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golga2
Ensembl Gene ENSMUSG00000002546
Gene Name golgin A2
Synonyms GM130
Accession Numbers
Essential gene? Probably essential (E-score: 0.875) question?
Stock # IGL02396
Quality Score
Status
Chromosome 2
Chromosomal Location 32178299-32197925 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 32188656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000081670] [ENSMUST00000100194] [ENSMUST00000113377] [ENSMUST00000129193] [ENSMUST00000139494]
AlphaFold Q921M4
Predicted Effect probably benign
Transcript: ENSMUST00000081670
SMART Domains Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
coiled coil region 105 173 N/A INTRINSIC
low complexity region 189 202 N/A INTRINSIC
low complexity region 301 313 N/A INTRINSIC
Pfam:GOLGA2L5 337 955 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100194
SMART Domains Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 45 51 N/A INTRINSIC
low complexity region 98 113 N/A INTRINSIC
coiled coil region 176 244 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
low complexity region 372 384 N/A INTRINSIC
Pfam:GOLGA2L5 408 1026 2.1e-299 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113377
SMART Domains Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 45 51 N/A INTRINSIC
low complexity region 71 86 N/A INTRINSIC
coiled coil region 149 217 N/A INTRINSIC
low complexity region 233 246 N/A INTRINSIC
low complexity region 345 357 N/A INTRINSIC
Pfam:GOLGA2L5 381 999 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127276
Predicted Effect probably benign
Transcript: ENSMUST00000129193
SMART Domains Protein: ENSMUSP00000115003
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 31 37 N/A INTRINSIC
low complexity region 57 72 N/A INTRINSIC
coiled coil region 136 176 N/A INTRINSIC
low complexity region 192 205 N/A INTRINSIC
coiled coil region 226 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131712
SMART Domains Protein: ENSMUSP00000114169
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
coiled coil region 106 146 N/A INTRINSIC
low complexity region 162 175 N/A INTRINSIC
coiled coil region 196 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147707
SMART Domains Protein: ENSMUSP00000121886
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
low complexity region 86 101 N/A INTRINSIC
coiled coil region 165 205 N/A INTRINSIC
low complexity region 221 234 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149141
Predicted Effect probably benign
Transcript: ENSMUST00000139494
SMART Domains Protein: ENSMUSP00000117476
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 55 61 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,882,256 (GRCm39) probably benign Het
Bhmt1b A G 18: 87,774,780 (GRCm39) E101G possibly damaging Het
Bmp3 C A 5: 99,020,578 (GRCm39) Q334K possibly damaging Het
Bnc2 G T 4: 84,194,246 (GRCm39) S1026R probably benign Het
Bsn C T 9: 107,993,245 (GRCm39) G836S possibly damaging Het
Cand2 A G 6: 115,768,149 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Ccdc38 A G 10: 93,409,994 (GRCm39) N271S possibly damaging Het
Ccdc81 T G 7: 89,530,857 (GRCm39) I362L probably benign Het
Cdhr3 T A 12: 33,095,195 (GRCm39) I625F possibly damaging Het
Col12a1 T A 9: 79,569,865 (GRCm39) R1568S probably benign Het
Cpeb4 T A 11: 31,875,441 (GRCm39) S547T probably benign Het
Dennd4c T A 4: 86,743,237 (GRCm39) N1075K probably damaging Het
Esrra C A 19: 6,889,373 (GRCm39) V339L probably benign Het
Ghr A T 15: 3,487,480 (GRCm39) M1K probably null Het
Gm4987 T A X: 45,544,991 (GRCm39) noncoding transcript Het
Gys1 T A 7: 45,089,012 (GRCm39) I137N probably damaging Het
Hs3st5 A T 10: 36,704,699 (GRCm39) M1L probably benign Het
Hsd3b5 T A 3: 98,529,343 (GRCm39) T96S probably benign Het
Ighv6-3 T C 12: 114,355,356 (GRCm39) D111G probably damaging Het
Immp1l T A 2: 105,767,351 (GRCm39) I70N probably damaging Het
Ints4 G A 7: 97,187,107 (GRCm39) V866I possibly damaging Het
Large2 G T 2: 92,196,668 (GRCm39) Y529* probably null Het
Maf1 C A 15: 76,237,457 (GRCm39) Y166* probably null Het
Manba T A 3: 135,250,525 (GRCm39) M384K probably damaging Het
Mapk4 C A 18: 74,067,068 (GRCm39) probably null Het
Mc5r T C 18: 68,472,537 (GRCm39) S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 (GRCm39) N1404K probably damaging Het
Milr1 C A 11: 106,656,065 (GRCm39) Y212* probably null Het
Ncor2 A G 5: 125,114,978 (GRCm39) S1115P probably damaging Het
Or10ag57 A T 2: 87,218,049 (GRCm39) probably benign Het
Or4f61 C A 2: 111,922,812 (GRCm39) C78F probably benign Het
Osbpl7 T G 11: 96,946,377 (GRCm39) L158R probably damaging Het
Psmd4 A T 3: 94,943,221 (GRCm39) L61Q probably damaging Het
Rassf9 A T 10: 102,381,554 (GRCm39) N310I possibly damaging Het
Rpl21-ps6 A G 17: 56,222,400 (GRCm39) noncoding transcript Het
Slc31a2 T C 4: 62,215,310 (GRCm39) I119T probably damaging Het
Srgap2 C A 1: 131,220,413 (GRCm39) C187F probably damaging Het
Tekt5 C A 16: 10,196,931 (GRCm39) A307S probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Ttn A G 2: 76,775,432 (GRCm39) V1916A unknown Het
Wee1 T G 7: 109,741,300 (GRCm39) V641G probably damaging Het
Zfand6 G A 7: 84,267,111 (GRCm39) P157L probably damaging Het
Other mutations in Golga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Golga2 APN 2 32,195,226 (GRCm39) missense probably benign 0.01
IGL01561:Golga2 APN 2 32,186,689 (GRCm39) missense probably benign 0.00
IGL02636:Golga2 APN 2 32,186,735 (GRCm39) critical splice donor site probably null
IGL02712:Golga2 APN 2 32,194,225 (GRCm39) missense probably damaging 1.00
IGL03172:Golga2 APN 2 32,182,168 (GRCm39) missense probably benign 0.04
IGL03193:Golga2 APN 2 32,195,020 (GRCm39) missense probably damaging 1.00
little UTSW 2 32,195,996 (GRCm39) nonsense probably null
R0050:Golga2 UTSW 2 32,182,139 (GRCm39) missense probably damaging 0.96
R0050:Golga2 UTSW 2 32,182,139 (GRCm39) missense probably damaging 0.96
R0265:Golga2 UTSW 2 32,194,964 (GRCm39) splice site probably null
R0440:Golga2 UTSW 2 32,192,945 (GRCm39) missense probably damaging 1.00
R0644:Golga2 UTSW 2 32,187,533 (GRCm39) missense probably damaging 1.00
R0825:Golga2 UTSW 2 32,194,803 (GRCm39) missense probably damaging 1.00
R1179:Golga2 UTSW 2 32,193,707 (GRCm39) missense possibly damaging 0.50
R1447:Golga2 UTSW 2 32,187,788 (GRCm39) missense possibly damaging 0.69
R1459:Golga2 UTSW 2 32,187,807 (GRCm39) splice site probably null
R1517:Golga2 UTSW 2 32,195,996 (GRCm39) nonsense probably null
R1522:Golga2 UTSW 2 32,192,216 (GRCm39) missense probably benign 0.01
R1599:Golga2 UTSW 2 32,193,185 (GRCm39) missense probably benign 0.00
R1702:Golga2 UTSW 2 32,189,287 (GRCm39) missense probably damaging 1.00
R1716:Golga2 UTSW 2 32,192,909 (GRCm39) missense probably damaging 1.00
R1777:Golga2 UTSW 2 32,195,482 (GRCm39) splice site probably null
R1781:Golga2 UTSW 2 32,196,588 (GRCm39) missense probably damaging 1.00
R2229:Golga2 UTSW 2 32,196,477 (GRCm39) missense probably benign 0.06
R2484:Golga2 UTSW 2 32,194,782 (GRCm39) missense probably benign 0.32
R2972:Golga2 UTSW 2 32,195,671 (GRCm39) missense probably benign 0.16
R3411:Golga2 UTSW 2 32,192,954 (GRCm39) missense probably damaging 0.98
R3851:Golga2 UTSW 2 32,195,623 (GRCm39) missense probably benign 0.30
R3852:Golga2 UTSW 2 32,195,623 (GRCm39) missense probably benign 0.30
R4130:Golga2 UTSW 2 32,178,178 (GRCm39) missense probably benign 0.07
R4783:Golga2 UTSW 2 32,187,168 (GRCm39) missense probably damaging 1.00
R4784:Golga2 UTSW 2 32,187,168 (GRCm39) missense probably damaging 1.00
R4785:Golga2 UTSW 2 32,187,168 (GRCm39) missense probably damaging 1.00
R4808:Golga2 UTSW 2 32,193,226 (GRCm39) missense probably benign 0.00
R5103:Golga2 UTSW 2 32,193,758 (GRCm39) missense probably benign 0.09
R5261:Golga2 UTSW 2 32,194,166 (GRCm39) missense probably benign 0.02
R5315:Golga2 UTSW 2 32,193,773 (GRCm39) missense probably damaging 1.00
R5508:Golga2 UTSW 2 32,178,199 (GRCm39) nonsense probably null
R5627:Golga2 UTSW 2 32,196,059 (GRCm39) nonsense probably null
R5921:Golga2 UTSW 2 32,187,767 (GRCm39) missense probably benign 0.00
R6678:Golga2 UTSW 2 32,189,072 (GRCm39) missense probably damaging 0.99
R7365:Golga2 UTSW 2 32,193,013 (GRCm39) nonsense probably null
R7390:Golga2 UTSW 2 32,178,202 (GRCm39) missense
R7395:Golga2 UTSW 2 32,195,599 (GRCm39) missense possibly damaging 0.94
R7555:Golga2 UTSW 2 32,178,178 (GRCm39) missense probably benign 0.07
R7640:Golga2 UTSW 2 32,196,251 (GRCm39) missense probably benign
R8219:Golga2 UTSW 2 32,196,492 (GRCm39) missense probably damaging 1.00
R8554:Golga2 UTSW 2 32,183,357 (GRCm39) missense probably damaging 1.00
R9071:Golga2 UTSW 2 32,178,364 (GRCm39) missense probably damaging 1.00
R9127:Golga2 UTSW 2 32,196,079 (GRCm39) missense
R9214:Golga2 UTSW 2 32,195,822 (GRCm39) missense probably damaging 1.00
R9537:Golga2 UTSW 2 32,178,313 (GRCm39) unclassified probably benign
R9643:Golga2 UTSW 2 32,193,874 (GRCm39) missense probably damaging 0.97
R9716:Golga2 UTSW 2 32,189,287 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16